Canonical Allele Identifier: CA594432612

Gene: POLR3A

Linked Data

• dbSNP Id: rs1307425895
• gnomAD v2: 10-79759718-G-C
• gnomAD v4: 10-77999960-G-C
• MyVariant Identifiers: chr10:g.79759718G>C (hg19) ; chr10:g.77999960G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.77999960G>C , CM000672.2:g.77999960G>C	GRCh38
NC_000010.10:g.79759718G>C , CM000672.1:g.79759718G>C	GRCh37
NC_000010.9:g.79429724G>C	NCBI36
NG_029648.1:g.34581C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698727.1:n.1676+21C>G
ENST00000698728.1:n.2195+21C>G
ENST00000698729.1:n.3741+21C>G
ENST00000698730.1:n.3741+21C>G
ENST00000698731.1:c.2475+21C>G	ENSP00000513898.1:n.2475+21C>G
ENST00000698732.1:c.*1477+21C>G	ENSP00000513899.1:n.*1477+21C>G
ENST00000698733.1:c.*1803+21C>G	ENSP00000513900.1:n.*1803+21C>G
ENST00000698734.1:c.2616+21C>G	ENSP00000513901.1:n.2616+21C>G
ENST00000698735.1:n.2731+21C>G
ENST00000698736.1:n.2731+21C>G
ENST00000698737.1:n.2731+21C>G
ENST00000698738.1:n.2731+21C>G
ENST00000698739.1:n.2731+21C>G
ENST00000372371.8:c.2616+21C>G MANE Select	ENSP00000361446.3:n.2616+21C>G
ENST00000372371.7:c.2616+21C>G	ENSP00000361446.3:n.2616+21C>G
ENST00000472014.5:n.469+4756C>G
NM_007055.3:c.2616+21C>G	NP_008986.2:n.2616+21C>G
NM_007055.4:c.2616+21C>G MANE Select	NP_008986.2:n.2616+21C>G